ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10362G>T (p.Arg3454Ser)

dbSNP: rs55726422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081178 SCV000545167 likely benign Long QT syndrome 2024-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000839301 SCV000981196 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002393097 SCV002699274 likely benign Cardiovascular phenotype 2018-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002489022 SCV002795948 likely benign Cardiac arrhythmia, ankyrin-B-related 2021-07-26 criteria provided, single submitter clinical testing

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